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Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Hoekstra AS, de Graaff MA, Briaire-de Bruijn IH, Ras C, Seifar RM, van Minderhout I, Cornelisse CJ, Hogendoorn PC, Breuning MH, Suijker J, Korpershoek E, Kunst HP, Frizzell N, Devilee P, Bayley JP, Bovée JV. Hoekstra AS, et al. Oncotarget. 2015 Nov 17;6(36):38777-88. doi: 10.18632/oncotarget.6091. Oncotarget. 2015. PMID: 26472283 Free PMC article.
Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers.
Hoekstra AS, Addie RD, Ras C, Seifar RM, Ruivenkamp CA, Briaire-de Bruijn IH, Hes FJ, Jansen JC, Corssmit EP, Corver WE, Morreau H, Bovée JV, Bayley JP, Devilee P. Hoekstra AS, et al. Hum Mol Genet. 2016 Sep 1;25(17):3715-3728. doi: 10.1093/hmg/ddw218. Epub 2016 Jul 8. Hum Mol Genet. 2016. PMID: 27402879
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Hoekstra AS, Hensen EF, Jordanova ES, Korpershoek E, van der Horst-Schrivers AN, Cornelisse C, Corssmit EP, Hes FJ, Jansen JC, Kunst HP, Timmers HJ, Bateman A, Eccles D, Bovée JV, Devilee P, Bayley JP. Hoekstra AS, et al. Oncotarget. 2017 Feb 28;8(9):14525-14536. doi: 10.18632/oncotarget.14649. Oncotarget. 2017. PMID: 28099933 Free PMC article.
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Pansuriya TC, et al. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004. Nat Genet. 2011. PMID: 22057234 Free PMC article.
302 results